Atypical teratoid rhabdoid tumor: Difference between revisions
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Atypical teratoid rhabdoid tumor (AT/RT) is a rare tumor usually diagnosed in childhood. Although usually a brain tumor, AT/RT can occur anywhere in the central nervous system (CNS) including the spinal cord. About 60% will be in the posterior cranial fossa (particularly the cerebellum). One review estimated 52% posterior fossa (PF), 39% sPNET (supratentorial primitive neuroectodermal tumors), 5% pineal, 2% spinal, and 2% multi-focal.[1]
Genetics
Diagnosis
The standard work-up for AT/RT includes:
- MRI Magnetic resonance imaging of the brain and spine
- LP (Lumbar puncture) to look for M1 disease
- CT (Computed tomography) of chest and abdomen to check for a tumor
- BMA (Bone Marrow Asperant) to check for bone tumors. Often a doctor will want perform a stem cell transplant
- BX Bone marrow biopsy
- Bone scan
Examination of the cerebrospinal fluid is important as one-third of patients will have intracranial dissemination with involvement of the cerebrospinal fluid (CSF). Large tumor cells, eccentricity of the nuclei and prominent nucleoli are consistent findings.[2] Usually only a minority of AT/RT biopsies have Rhabdoid cells, making diagnosis more difficult. Increasingly it is recommended that a genetic analysis be performed on the brain tumor, especially to find if a deletion in the INI1/hSNF5 gene is involved (appears to account for over 80% of the cases). The correct diagnosis of the tumor is critical to any protocol. Studies have shown that 8% to over 50% of AT/RT tumors are diagnosed incorrectly.
Appearance on radiologic exam
AT/RTs can occur at any sites within the CNS, however, approximately 60% are located in the posterior fossa or cerebellar area. The ASCO study showed 52% posterior fossa (PF); 39% sPNET (supratentorial primitive neuroectodermal tumors); 5% pineal; 2% spinal, and 2% multi-focal.[1]
Treatment
Prognosis
Metastasis
Metastatic spread is noted in approximately one-third of the AT/RT cases at the time of diagnosis and tumors can occur anywhere throughout the CNS. The ASCO study of the 188 documented AT/RT cases prior to 2004 found 30% of the cases had metastasis at diagnosis.[1] Metastatic spread to the meninges (leptomenigeal spread sometimes referred to as sugar coating) is common both initially and with relapse. Average survival times decline with the presence of metastasis. Primary CNS tumors metastasize only within the CNS.
One case of metastatic disease to the abdomen via ventriculoperitoneal shunt has been reported with AT/RT . Metastatic dissemination via this mechanism has been reported with other brain tumors including germinomas, medulloblastomas, astrocytomas, glioblastomas, ependymomas and endodermal sinus tumors. Guler and Sugita separately reported cases of lung metastasis without a shunt.[3][4]
References
- ↑ 1.0 1.1 1.2 Kieran MW (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology. Education Book. Retrieved 2007-05-20.
- ↑ Lu L, Wilkinson EJ, Yachnis AT (2000). "CSF cytology of atypical teratoid/rhabdoid tumor of the brain in a two-year-old girl: a case report". Diagn. Cytopathol. 23 (5): 329–32. PMID 11074628.
- ↑ Güler E, Varan A, Söylemezoglu F; et al. (2001). "Extraneural metastasis in a child with atypical teratoid rhabdoid tumor of the central nervous system" (PDF). J. Neurooncol. 54 (1): 53–6. PMID 11763423.
- ↑ Sugita Y, Takahashi Y, Hayashi I, Morimatsu M, Okamoto K, Shigemori M (1999). "Pineal malignant rhabdoid tumor with chondroid formation in an adult". Pathol. Int. 49 (12): 1114–8. PMID 10632935.
External links
- The Rhabdoid Registry
- Hilden JM, Meerbaum S, Burger P et al. (2004-07-15). "Central Nervous System Atypical Teratoid/Rhabdoid Tumor: Results of Therapy in Children Enrolled in a Registry". Journal of Clinical Oncology. 22 (14): 2877–84. doi:10.1200/JCO.2004.07.073. Retrieved 2007-05-23. Check date values in:
|date=(help) - Beigel J, Kalpana G, Knudsen E et al. (2002). "The role of INI and the SWI/SNF complex in the development of rhabdoid tumors: Meeting Summary from the workshop on childhood atypical teratoid rhabdoid tumors". Cancer Research 2002 (63:): 323–28.
- Huret J, Sevenet N (2002). "Rhabdoid predisposition syndrome". Atlas of Genetics and Cytogenetics in Oncology and Haematology.
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